Black urine disease, also known as alkaptonuria or ochronosis, is an inherited disorder caused by a deficiency of an enzyme called homogentisic acid oxidase. This enzyme helps break down and remove a compound called homogentisic acid from the body. Without this enzyme, the body is unable to break down and remove homogentisic acid, resulting in a build-up of this compound in various tissues. This build-up of homogentisic acid leads to a range of symptoms, including black-colored urine, arthritis, and heart and kidney problems.
The black color of the urine in black urine disease is caused by the build-up of homogentisic acid in the urine. This compound is known to be dark in color, and as it builds up in the body, it is excreted in the urine, causing it to be discolored. In addition to causing the urine to be black, the build-up of homogentisic acid can also lead to a range of other symptoms.
The most common symptom associated with black urine disease is arthritis. The build-up of homogentisic acid in the body can cause swelling and pain in the joints, resulting in a variety of forms of arthritis. In addition to this, the build-up of homogentisic acid can also lead to heart and kidney problems. The build-up of this compound can lead to an increased risk of heart attacks and strokes, as well as an increased risk of kidney stones and kidney failure.
Overall, black urine disease is caused by a deficiency of the enzyme homogentisic acid oxidase. This deficiency leads to a build-up of the compound homogentisic acid in the body, which can result in black-colored urine, arthritis, and heart and kidney problems. Treatment for black urine disease primarily focuses on treating the underlying symptoms, such as pain and inflammation in the joints, as well as reducing the risk of heart attacks and strokes.